Myozenin 1 (MYOZ1) - coding DNA reference sequence

(used for mutation description)

(last modified April 20, 2012)


This file was created to facilitate the description of sequence variants in the MYOZ1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032583.1, covering MYOZ1 transcript NM_021245.3.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5005
                                                        gtttc       c.-361

 .         .         .         .         .         .                g.5065
 tccctaagtgcttctttggatctcaggctctaggtgcaatgtgaaggggagtccctgggc       c.-301

 .         .         .         .         .         .                g.5125
 agactgatccctggctcagacagttcagtgggagaatcccaaaggccttttccctccttc       c.-241

 .         .         .         .         .         .                g.5185
 ctgagcctccgggcaaggagggagggatcttggttccagggtctcagtaccccctgtgcc       c.-181

 .         .         .         .         .         .                g.5245
 atttgagctgcttgcgctcatcatctctattaataaccaacttccctcccccactgccag       c.-121

 .         .         .         .         .         .                g.5305
 tgctgcccccacgcctgcccagctcgtgttctccggtcacagcagctcagtcctccaaag       c.-61

 .         .         .         .         .  | 02      .             g.6740
 ctgctggaccccagggagagctgaccactgcccgagcagccg | gctgaatccacctccaca    c.-1

          .         .         .         .         .         .       g.6800
 ATGCCGCTCTCAGGAACCCCGGCCCCTAATAAGAAGAGGAAATCCAGCAAGCTGATCATG       c.60
 M  P  L  S  G  T  P  A  P  N  K  K  R  K  S  S  K  L  I  M         p.20

          .    | 03    .         .         .         .         .    g.8882
 GAACTCACTGGAG | GTGGACAGGAGAGCTCAGGCTTGAACCTGGGCAAAAAGATCAGTGTC    c.120
 E  L  T  G  G |   G  Q  E  S  S  G  L  N  L  G  K  K  I  S  V      p.40

          .         .         .         .         .         .       g.8942
 CCAAGGGATGTGATGTTGGAGGAACTGTCGCTGCTTACCAACCGGGGCTCCAAGATGTTC       c.180
 P  R  D  V  M  L  E  E  L  S  L  L  T  N  R  G  S  K  M  F         p.60

          .         .         .         .         .         .       g.9002
 AAACTGCGGCAGATGAGGGTGGAGAAGTTTATTTATGAGAACCACCCTGATGTTTTCTCT       c.240
 K  L  R  Q  M  R  V  E  K  F  I  Y  E  N  H  P  D  V  F  S         p.80

          .   | 04     .         .         .         .         .    g.12072
 GACAGCTCAATG | GATCACTTCCAGAAGTTCCTTCCAACAGTGGGGGGACAGCTGGGCACA    c.300
 D  S  S  M   | D  H  F  Q  K  F  L  P  T  V  G  G  Q  L  G  T      p.100

          .         .         .         .         .         .       g.12132
 GCTGGTCAGGGATTCTCATACAGCAAGAGCAACGGCAGAGGCGGCAGCCAGGCAGGGGGC       c.360
 A  G  Q  G  F  S  Y  S  K  S  N  G  R  G  G  S  Q  A  G  G         p.120

          .         .         .         .         .         .       g.12192
 AGTGGCTCTGCCGGACAGTATGGCTCTGATCAGCAGCACCATCTGGGCTCTGGGTCTGGA       c.420
 S  G  S  A  G  Q  Y  G  S  D  Q  Q  H  H  L  G  S  G  S  G         p.140

          .         .         .         .         .         .       g.12252
 GCTGGGGGTACAGGTGGTCCCGCGGGCCAGGCTGGCAGAGGAGGAGCTGCTGGCACAGCA       c.480
 A  G  G  T  G  G  P  A  G  Q  A  G  R  G  G  A  A  G  T  A         p.160

          .         .   | 05     .         .         .         .    g.12730
 GGGGTTGGTGAGACAGGATCAG | GAGACCAGGCAGGCGGAGAAGGAAAACATATCACTGTG    c.540
 G  V  G  E  T  G  S  G |   D  Q  A  G  G  E  G  K  H  I  T  V      p.180

          .         .         .         .         .         .       g.12790
 TTCAAGACCTATATTTCCCCATGGGAGCGAGCCATGGGGGTTGACCCCCAGCAAAAAATG       c.600
 F  K  T  Y  I  S  P  W  E  R  A  M  G  V  D  P  Q  Q  K  M         p.200

          .         .         .         .         .         .       g.12850
 GAACTTGGCATTGACCTGCTGGCCTATGGGGCCAAAGCTGAACTTCCCAAATATAAGTCC       c.660
 E  L  G  I  D  L  L  A  Y  G  A  K  A  E  L  P  K  Y  K  S         p.220

          | 06         .         .         .         .         .    g.14648
 TTCAACAG | GACGGCAATGCCCTATGGTGGATATGAGAAGGCCTCCAAACGCATGACCTTC    c.720
 F  N  R  |  T  A  M  P  Y  G  G  Y  E  K  A  S  K  R  M  T  F      p.240

          .         .         .         .         .         .       g.14708
 CAGATGCCCAAGTTTGACCTGGGGCCCTTGCTGAGTGAACCCCTGGTCCTCTACAACCAA       c.780
 Q  M  P  K  F  D  L  G  P  L  L  S  E  P  L  V  L  Y  N  Q         p.260

          .         .         .         .         .         .       g.14768
 AACCTCTCCAACAGGCCTTCTTTCAATCGAACCCCTATTCCCTGGCTGAGCTCTGGGGAG       c.840
 N  L  S  N  R  P  S  F  N  R  T  P  I  P  W  L  S  S  G  E         p.280

          .         .         .         .         .         .       g.14828
 CCTGTAGACTACAACGTGGATATTGGCATCCCCTTGGATGGAGAAACAGAGGAGCTGTGA       c.900
 P  V  D  Y  N  V  D  I  G  I  P  L  D  G  E  T  E  E  L  X         p.299

          .         .         .         .         .         .       g.14888
 ggtgtttcctcctctgatttgcatcatttcccctctctggctccaatttggagagggaat       c.*60

          .         .         .         .         .         .       g.14948
 gctgagcagatagcccccattgttaatccagtatccttatgggaatggagggaaaaagga       c.*120

          .         .         .         .         .         .       g.15008
 gagatctacctttccatcctttactccaagtccccactccacgcatccttcctcaccaac       c.*180

          .         .         .         .         .         .       g.15068
 tcagagctccccttctacttgctccatatggaacctgctcgtttatggaatttgctctgc       c.*240

          .         .         .         .         .         .       g.15128
 caccagtaacagtcaataaacttcaaggaaaatgaactcattcttcctttgatatttgag       c.*300

          .                                                         g.15146
 agcagatgaaagccgagg                                                 c.*318

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Myozenin 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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